Genetic variation is historically challenging for undergraduate students to master, potentially due to its grounding in both evolution and genetics. Traditionally, student expertise in genetic variation has been evaluated using Key Concepts. However, Cognitive Construals may add to a more nuanced picture of students' developing expertise. Here, we…

This study aimed to develop and validate machine learning models to predict intensities in children and adolescents with cystic fibrosis (CF) across different accelerometry brands and placements. Thirty-five children and adolescents with CF (11.6 ± 2.8 yrs; 15 girls) and 28 healthy youth (12.2 ± 2.7 yrs; 16 girls) performed six activities whilst…

This study aimed to explore stakeholders' perspectives on the ethical considerations for returning individual pharmacogenomics research results to people living with HIV. A qualitative approach to investigation involved five focus group discussions with 30 Community representatives, 12 key informant interviews with researchers, and 12 in-depth…

Here we build from the central strength of the existing definition of dyslexia--its emphasis on neurobiological origins--and proffer a set of seven core principles for a new, more comprehensive conceptualization of dyslexia. These principles derive from two major research directions: (1) the still evolving history of attempts to explain dyslexia,…

Purpose: The Social Responsiveness Scale (SRS) is frequently used in research settings to measure characteristics associated with autism spectrum disorders (ASD). A short version has been developed but not yet tested for certain properties of the full SRS, such as familiality. The purpose of this study was to determine if prior familiality…

Science should provide students an accurate and contemporary education on genetic influence, particularly how it impacts trait variability and developmental norms. Stories involving familial, racial, and sexual differences routinely appear in the popular media and sales of over-the-counter genetic tests are mounting. Unfortunately, research…

Purpose: The aim of this study is to establish which specific cognitive abilities are phenotypically related to reading skill in adolescence and determine whether this phenotypic correlation is explained by polygenetic overlap. Method: In an Australian population sample of twins and non-twin siblings of European ancestry (734 [less than or equal…

We describe the development of 236 children with Angelman syndrome (AS) using the Bayley Scales of Infant and Toddler Development, Third Edition. Multilevel linear mixed modeling approaches were used to explore differences between molecular subtypes and over time. Individuals with AS continue to make slow gains in development through at least age…

Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition with a strong genetic basis. We accurately assessed 209 ASD subjects, categorized in complex (47) and essential (162), and performed array comparative genomic hybridization to identify pathogenic and recurrent Copy Number Variants (CNVs). We found 117 CNVs in 75…

There is a critical need for high-quality clinical outcome assessments to capture the important aspects of communication ability of individuals with Angelman syndrome (AS). To center the perspective of caregivers, our team developed the novel Observer-Reported Communication Ability (ORCA) measure using best practice guidelines, with the goal of…

This study aimed to systematically assess the impact of clinical and demographic variables on the diagnostic yield of Whole Exome Sequencing (WES) when applied to children with Autism Spectrum Disorder (ASD) from a consanguineous population. Ninety-seven children were included in the analysis, 63% were male and 37% were females. 77.3% had a…

Williams syndrome (WS) is a rare genetic condition associated with high sociability, intellectual disability, and social cognitive challenges. Attention to others' eyes is crucial for social understanding. Orienting to, and from other's eyes was studied in WS (n = 37, mean age = 23, age range 9-53). The WS group was compared to a typically…

Many theories support the idea that children's literacy learning develops as they learn to make meaning through interactions with others. These assertions are premised on the understanding that childhood literacy serves various social purposes and that these literacies are learned through participating in social contexts. In this position paper,…

The aim of this study is to define epigenetic literacy and describe how it can be included in school biology. Epigenetics is a new field of research in biology with abundant societal consequences and conceptual implications on how genetics is understood. Epigenetics explains how genes are regulated, thereby clarifying cell differentiation, and…

Autism spectrum disorder (ASD) represents a group of childhood-onset lifelong neuro-developmental disorders. However, the association between single nucleotide polymorphisms (SNPs) in the deleted in colorectal carcinoma (DCC) gene and ASD susceptibility remains unclear. We investigated the association between ASD susceptibility and seven SNPs in…